E48D (p.Glu48Asp) variant of COL3A1 (Collagen alpha-1(III) chain)
E48D (p.Glu48Asp) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ehlers-Danlos syndrome, type 4. The record also includes published literature and structural context.
E48D (p.Glu48Asp) variant details
- p.Glu48Asp
- rs1199014910
- ClinGen CA349846988
- ClinVar RCV003633450
- Uncertain significance
- Ehlers-Danlos syndrome, type 4
- Missense
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, type 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Vascular Ehlers-Danlos Syndrome. (PMID 20301667)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)